NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 17, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000711275.2

Allele description [Variation Report for NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)]

NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
HGVS:
  • NC_000001.11:g.11992690G>T
  • NG_007945.1:g.17510G>T
  • NM_001127660.2:c.311G>T
  • NM_014874.3:c.311G>T
  • NM_014874.4:c.311G>TMANE SELECT
  • NP_001121132.1:p.Arg104Leu
  • NP_055689.1:p.Arg104Leu
  • NP_055689.1:p.Arg104Leu
  • LRG_255t1:c.311G>T
  • LRG_255:g.17510G>T
  • LRG_255p1:p.Arg104Leu
  • NC_000001.10:g.12052747G>T
Protein change:
R104L
Links:
dbSNP: rs863224068
NCBI 1000 Genomes Browser:
rs863224068
Molecular consequence:
  • NM_001127660.2:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.3:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000705951EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 7, 2017)
germlineclinical testing

Citation Link,

SCV000841611Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(May 17, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. Erratum in: J Peripher Nerv Syst. 2018 Jun;23(2):149-150.

PubMed [citation]
PMID:
28660751
PMCID:
PMC5697682

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF.

Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi: 10.1093/brain/aws049. Epub 2012 Apr 4. No abstract available.

PubMed [citation]
PMID:
22492563
PMCID:
PMC3407419
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000705951.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics Inc, SCV000841611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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